[Precocious puberty in the McCune-Albright Syndrome: a case report]

[McCune-Albright综合征的性早熟:病例报告]

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Abstract

McCune-Albright Syndrome is a rare condition with a clinical diagnosis, typically suspected when the classic triad is present: café-au-lait spots, fibrous dysplasia of bone and endocrinopathy. Therapeutic management depends on the endocrine involvement and the severity of bone disease. We here report an original case of a 2-year and 8-month-old girl presenting with precocious puberty revealing McCune-Albright syndrome. The diagnosis was suspected due to premature menarche and premature thelarche associated with café-au-lait spots. Biochemically, estradiol levels were elevated at 179 ng/ml with low FSH and LH levels. ALHRH test demonstrated a flat FSH LH profile with a peak LH/FSH ratio < 1, confirming the peripheral origin of precocious puberty. X-ray of the wrist showed a heterogeneous bone texture suggestive of fibrous dysplasia. To control vaginal bleeding and reduce hyperestrogenism, treatment with third-generation aromatase inhibitors "Letrozole" was prescribed with good clinical and biochemical outcome. This study highlights the importance of thorough clinical examination including skin and mucosal examination in any case of precocious puberty to ensure accurate etiological diagnosis and appropriate treatment.

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